Property Summary

NCBI Gene PubMed Count 43
PubMed Score 31.01
PubTator Score 36.27

Knowledge Summary

Patent (1,104)

Expression

  Differential Expression (6)

Disease log2 FC p
ependymoma -1.500 0.024
medulloblastoma -1.700 0.000
atypical teratoid / rhabdoid tumor -1.100 0.020
glioblastoma -1.300 0.003
medulloblastoma, large-cell -1.400 0.019
lung cancer 2.600 0.000

Synonym

Accession P34903 Q8TAF9
Symbols

Gene

  TechDev Info (1)

Susumu Tomita Biochemical interactoin

Gene RIF (32)

PMID Text
26869349 Gabra3 activates the AKT pathway to promote breast cancer cell migration, invasion and metastasis. The A-to-I RNA-edited form of Gabra3 is found only in non-invasive breast cancers. Edited Gabra3 suppresses breast cancer cell invasion and metastasis.
25531214 The N-terminal region of GABRA3 and the GlyR beta subunit occupies the same binding site of gephyrin.
24055488 A novel role for GA-repeat core promoter to regulate gene expression in the genes such as GABRA3 involved in development and evolution.
23727119 Endogenous potentiation of GABAergic synaptic transmission and responses to GABA uncaging in the thalamic reticular nucleus is absent in mice in which benzodiazepine binding to alpha3 subunit-containing GABAARs is disrupted.
23617850 high expression of GABBR2 with a low expression of GABR(A3) may predict a better outcome in non-small cell lung cancer
23169495 We identified truncating mutations in distinct X-linked gamma-aminobutyric acid A (GABAA) receptor subunit-encoding genes, GABRQ and GABRA3.this is the first report of ASD patients with truncating mutations in GABA receptors genes.
21971078 The results indicate that there may be specific GABA receptor gene expression variation in migraine, particularly involving the GABRA3 and GABBR2 genes.
20843900 In subjects with schizophrenia, GABA A alpha3 receptor expression is 14% higher in layer 2 of the dorsolateral prefrontal cortex.
20692323 The ratios of beta(3)/beta(2) and alpha(5)/alpha(1) subunit protein expression in Angelman syndrome cortex were significantly decreased when compared with controls.
20468064 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MIITQTSHCYMTSLGILFLINILPGTTGQGESRRQEPGDFVKQDIGGLSPKHAPDIPDDSTDNITIFTRI      1 - 70
LDRLLDGYDNRLRPGLGDAVTEVKTDIYVTSFGPVSDTDMEYTIDVFFRQTWHDERLKFDGPMKILPLNN     71 - 140
LLASKIWTPDTFFHNGKKSVAHNMTTPNKLLRLVDNGTLLYTMRLTIHAECPMHLEDFPMDVHACPLKFG    141 - 210
SYAYTTAEVVYSWTLGKNKSVEVAQDGSRLNQYDLLGHVVGTEIIRSSTGEYVVMTTHFHLKRKIGYFVI    211 - 280
QTYLPCIMTVILSQVSFWLNRESVPARTVFGVTTVLTMTTLSISARNSLPKVAYATAMDWFIAVCYAFVF    281 - 350
SALIEFATVNYFTKRSWAWEGKKVPEALEMKKKTPAAPAKKTSTTFNIVGTTYPINLAKDTEFSTISKGA    351 - 420
APSASSTPTIIASPKATYVQDSPTETKTYNSVSKVDKISRIIFPVLFAIFNLVYWATYVNRESAIKGMIR    421 - 490
KQ                                                                        491 - 492
//

Text Mined References (43)

PMID Year Title
26869349 2016 The mRNA-edited form of GABRA3 suppresses GABRA3-mediated Akt activation and breast cancer metastasis.
26613940 2015 Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.
25531214 2014 Molecular basis of the alternative recruitment of GABA(A) versus glycine receptors through gephyrin.
24055488 2013 Polymorphic core promoter GA-repeats alter gene expression of the early embryonic developmental genes.
23727119 2013 Endogenous positive allosteric modulation of GABA(A) receptors by diazepam binding inhibitor.
23617850 2013 Expression of gamma-aminobutyric acid receptors on neoplastic growth and prediction of prognosis in non-small cell lung cancer.
23169495 2013 Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals.
21971078 2011 Significant differences in gene expression of GABA receptors in peripheral blood leukocytes of migraineurs.
20843900 2011 Lamina-specific alterations in cortical GABA(A) receptor subunit expression in schizophrenia.
20692323 2010 Altered GABA(A) receptor subunit expression and pharmacology in human Angelman syndrome cortex.
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